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Papillon-Léage and Psaume syndrome

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A congenital syndrome characterised by orofacial and digital defects. Main features are microcephaly, malformed canthi of the eye, defective alar cartilage of the nose, webbed fingers, tremor, frontal alopecia, defects of the lip and palate with normal or below average growth. A variety of cerntral nervous system malformations. Mental retardation and trembling (not constant).

The syndrome is inherited as a dominant X-linked trait limited to females and lethal in males. Reported in males; one of the males who had chromosomal study done showed a 47 XXY pattern.

First described by Papillon-Léage and Psaume in 1954 on the basis of eight cases. Robert J. Gorlin made the syndrome internationally known.


  • E. Papillon-Léage, J. Psaume:
    Une malformation héréditaire de la muqueuse buccale, brides et freins anormaux: Généralities.
    Revue de Stomatologie, Paris, 1954, 55: 209-227.
  • R. J. Gorlin, J. Psaume:
    Orodigitofacial dysostosis – a new syndrome. A study of 22 cases.
    Journal of Pediatrics, St. Louis, 1962, 61: 520-530.
  • R. J. Gorlin:
    The oral-facial-digital (OFD) syndrome. Cutis, 1966, 4: 1345.

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